News & Publications for:

Christina Gurnett

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

Posted on October 27, 2011

Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S, Chung WK, Marsh ED, Gentile M, Reggin JD, Wheless JW, Balasubramanian S, Kumar R, Christian SL, Marini C, Guerrini R, Maltsev N, Shaffer LG, Dobyns WB (2011). Eur J Hum Genet, doi:10.1038/ejhg
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Posted in: Neurogenetics, Publications Faculty: ,

Novel genetic findings in an extended family pedigree with sleepwalking

Posted on October 24, 2011

Licis AK, Desruisseau DM, Yamada KA, Duntley SP, Gurnett CA (2011). Neurology, 76(1):49-52
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Posted in: Neurogenetics, Publications Faculty: ,

Exome sequencing identifies MYH3 mutation in family with distal arthrogryposis type 1

Posted on October 11, 2011

Alvarado DM, Buchan JG, Gurnett C, Dobbs MB (2011). J Bone Join Surg Am, 93(11):1045-50. PMCID:PMC2896772 Read More

Posted in: Neurogenetics, Publications Faculty:

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

Posted on October 11, 2010

Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB (2010). Hum Mol Genet, 19(7):1165-73. PMCID:PMC2838534 Read More

Posted in: HPAN, Neurodegeneration, Neurogenetics, Publications Faculty: , ,

Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4

Posted on October 11, 2010

Alvarado DM, Aferol H, McCall K, Huang JB, Techy M, Buchan J, Cady J, Gonzales PR, Dobbs MB, Gurnett CA (2010). Am J Hum Genet, 87(1):154-160. PMCID:PMC2896772 Read More

Posted in: Neurogenetics, Publications Faculty: